| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37493039G>A | CA16621001 | DYRK1A | c.974G>A (p.Arg325His) c.860G>A (p.Arg287His) c.947G>A (p.Arg316His) n.777G>A n.338G>A c.995G>A (p.Arg332His) n.389G>A c.887G>A (p.Arg296His) c.290G>A (p.Arg97His) c.968G>A (p.Arg323His) | ClinVar dbSNP gnomAD v4 |
| 21 | g.37493039G= | CA2388497050 | DYRK1A | c.974G= (p.Arg325=) c.860G= (p.Arg287=) c.947G= (p.Arg316=) n.777G= n.338G= c.995G= (p.Arg332=) n.389G= c.887G= (p.Arg296=) c.290G= (p.Arg97=) c.968G= (p.Arg323=) | dbSNP |